Gamma-Secretase Subunit APH-1A

Preferred Label : Gamma-Secretase Subunit APH-1A;

NCIt synonyms : Presenilin-Stabilization Factor; Aph-1alpha; APH-1a; APH1A;

NCIt definition : Gamma-secretase subunit APH-1A (265 aa, 29 kDa) is encoded by the human APH1A gene. This protein plays a role in the assembly of gamma-secretase complexes.;

NCIt note : There are at least 3 isoforms of gamma-secretase subunit APH-1A that result from alternative splicing. The long isoform (isoform 1; APH1AL; L, Aph-alpha1) is encoded by 7 exons and is considered the canonical isoform by UniProt. Two shorter isoforms, isoform 2 (APH1AS; S, Aph-alpha2) and isoform 3, are encoded by 6 exons. (UniProt and OMIM);

Détails

Origin ID

C212952;

OMIM relation
- Aph1 homolog a, gamma secretase subunit [OMIM gene]
gene_encodes_gene_product
- APH1A Gene [NCIt concept]
- Regulatory Gene [NCIt concept]
gene_product_has_associated_anatomy
- Cellular Membrane [NCIt concept]
gene_product_has_chemical_classification
- Transmembrane Protein [NCIt concept]
gene_product_has_structural_domain_or_motif
- Transmembrane Domain [NCIt concept]
gene_product_is_element_in_pathway
- Alzheimer's Disease Pathway KEGG [NCIt concept]
- Nerve Growth Factor Receptor Signaling Pathway [NCIt concept]
- Notch Signaling Pathway [NCIt concept]
- Presenilin Action in Notch and Wnt Signaling Pathways [NCIt concept]
- Syndecan-3-Mediated Signaling Pathway [NCIt concept]
gene_product_is_physical_part_of
- Gamma Secretase [NCIt concept]
gene_product_plays_role_in_biological_process
- Intercellular Communication Process [NCIt concept]
- Regulated Intramembrane Proteolysis [NCIt concept]

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